• Gene id: 9731

Gene Summary

• Gene Symbol: CEP104   Gene   UCSC   Ensembl
• Aliases: CFAP256, GlyBP, JBTS25, KIAA0562, ROC22
• Gene name: centrosomal protein 104
• Alternate names: centrosomal protein of 104 kDa, centrosomal protein 104kDa,
• Gene location: 1p36.32 (3857232: 3812085)     Exons: 24     NC_000001.11
• Gene summary(Entrez): This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with h
• OMIM: 611052

Protein Summary

• Protein general information: O60308  
  • Name: Centrosomal protein of 104 kDa (Cep104)
  • Length: 925  
  • Mass: 104448
• Sequence:

  MPHKIGFVVVSSSGHEDGFSARELMIHAPTVSGWRSPRFCQFPQEIVLQMVERCRIRKLQLLAHQYMISSKIEFY
  ISESLPEYFAPYQAERFRRLGYVSLCDNEKTGCKARELKSVYVDAVGQFLKLIFHQNHVNKYNIYNQVALVAINI
  IGDPADFSDESNTASREKLIDHYLGHNSEDPALEGTYARKSDYISPLDDLAFDMYQDPEVAQIIRKLDERKREAV
  QKERYDYAKKLKQAIADLQKVGERLGRYEVEKRCAVEKEDYDLAKEKKQQMEQYRAEVYEQLELHSLLDAELMRR
  PFDLPLQPLARSGSPCHQKPMPSLPQLEERGTENQFAEPFLQEKPSSYSLTISPQHSAVDPLLPATDPHPKINAE
  SLPYDERPLPAIRKHYGEAVVEPEMSNADISDARRGGMLGEPEPLTEKALREASSAIDVLGETLVAEAYCKTWSY
  REDALLALSKKLMEMPVGTPKEDLKNTLRASVFLVRRAIKDIVTSVFQASLKLLKMIITQYIPKHKLSKLETAHC
  VERTIPVLLTRTGDSSARLRVTAANFIQEMALFKEVKSLQIIPSYLVQPLKANSSVHLAMSQMGLLARLLKDLGT
  GSSGFTIDNVMKFSVSALEHRVYEVRETAVRIILDMYRQHQASILEYLPPDDSNTRRNILYKTIFEGFAKIDGRA
  TDAEMRARRKAATEEAEKQKKEEIKALQGQLAALKEIQAEVQEKESDAVKPKNQDIQGGKAAPAEALGIPDEHYL
  DNLCIFCGERSESFTEEGLDLHYWKHCLMLTRCDHCKQVVEISSLTEHLLTECDKKDGFGKCYRCSEAVFKEELP
  RHIKHKDCNPAKPEKLANRCPLCHENFSPGEEAWKAHLMGPAGCTMNLRKTHILQKAPALQPGKSSAVAASGPLG
  SKAGSKIPTPKGGLSKSSSRTYAKR

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR008979  IPR034085  
  • PDB: 5LPH 5LPI
  • PDBsum: 5LPH 5LPI
  • STRING: ENSP00000367476
• Other Databases: GeneCards:  CEP104  Malacards:  CEP104

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005929	cilium	IBA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016596	thienylcyclohexylpiperidine binding	IEA	molecular function
GO:0016594	glycine binding	IEA	molecular function
GO:0016595	glutamate binding	IEA	molecular function
GO:0005929	cilium	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0000922	spindle pole	IEA	cellular component
GO:0005814	centriole	IEA	cellular component

Diseases

Associated diseases	References
Joubert syndrome	KEGG:H00530
Joubert syndrome	KEGG:H00530
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq